http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs#head http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs#assertion http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs#provenance http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs#assertion http://rdf.disgenet.org/resource/gda/DGN17fff81369b7c5482e742ab3183a7ecf http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5744 http://rdf.disgenet.org/resource/gda/DGN17fff81369b7c5482e742ab3183a7ecf http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0432211 http://rdf.disgenet.org/resource/gda/DGN17fff81369b7c5482e742ab3183a7ecf http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs#provenance http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs#assertion http://purl.org/dc/terms/description [A four-generation kindred (14 affected and 10 unaffected members) from Missouri, U.S.A. in which spondyloepimetaphyseal dysplasia (SEMD) had been inherited as an autosomal dominant disorder was investigated for linkage to 13 candidate loci: COL2AI, COL9AI, COL9A2, COL9A3, COL10A1, COL11A1, COL11A2, PSACH, FGFR3, decorin, CRTL1, COMP, and PTHRP.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9258750 http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs http://purl.org/dc/terms/created 2017-10-17T13:15:49+02:00 http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP884528.RAboGv6x78qUEGG7jRitIIsXMQVCK2tNZcqTGQlf-CxKs http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0